Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0000818	HP:0000818	Abnormality of the endocrine system	0	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0000818	Abnormality of the endocrine system	0	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0000818	Abnormality of the endocrine system	0	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0000818	Abnormality of the endocrine system	0	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0000818	Abnormality of the endocrine system	0	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0000818	Abnormality of the endocrine system	0	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0003117	Abnormal circulating hormone concentration	1	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0012093	Abnormality of endocrine pancreas physiology	1	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0000864	Abnormality of the hypothalamus-pituitary axis	1	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0008373	Puberty and gonadal disorders	1	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0000777	Abnormality of the thymus	1	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0012029	Abnormal urine hormone level	1	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0012680	Abnormality of the pineal gland	1	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0000834	Abnormality of the adrenal glands	1	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0000873	Diabetes insipidus	1	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0000819	Diabetes mellitus	1	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0031072	Abnormal endocrine physiology	1	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0031071	Abnormal endocrine morphology	1	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0000820	Abnormality of the thyroid gland	1	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0000828	Abnormality of the parathyroid gland	1	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0000847	Abnormality of renin-angiotensin system	1	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0100568	Neoplasm of the endocrine system	1	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0008373	Puberty and gonadal disorders	1	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0000834	Abnormality of the adrenal glands	1	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0000777	Abnormality of the thymus	1	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0012029	Abnormal urine hormone level	1	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0012680	Abnormality of the pineal gland	1	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0000873	Diabetes insipidus	1	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0000819	Diabetes mellitus	1	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0031072	Abnormal endocrine physiology	1	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0031071	Abnormal endocrine morphology	1	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0000820	Abnormality of the thyroid gland	1	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0000828	Abnormality of the parathyroid gland	1	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0000847	Abnormality of renin-angiotensin system	1	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0100568	Neoplasm of the endocrine system	1	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0003117	Abnormal circulating hormone concentration	1	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0012093	Abnormality of endocrine pancreas physiology	1	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0000864	Abnormality of the hypothalamus-pituitary axis	1	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0003117	Abnormal circulating hormone concentration	1	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0008373	Puberty and gonadal disorders	1	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0012093	Abnormality of endocrine pancreas physiology	1	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0000864	Abnormality of the hypothalamus-pituitary axis	1	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0012029	Abnormal urine hormone level	1	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0000873	Diabetes insipidus	1	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0012680	Abnormality of the pineal gland	1	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0000834	Abnormality of the adrenal glands	1	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0000777	Abnormality of the thymus	1	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0031072	Abnormal endocrine physiology	1	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0031071	Abnormal endocrine morphology	1	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0000819	Diabetes mellitus	1	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0000820	Abnormality of the thyroid gland	1	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0000828	Abnormality of the parathyroid gland	1	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0100568	Neoplasm of the endocrine system	1	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0000847	Abnormality of renin-angiotensin system	1	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0003117	Abnormal circulating hormone concentration	1	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0008373	Puberty and gonadal disorders	1	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0012093	Abnormality of endocrine pancreas physiology	1	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0000864	Abnormality of the hypothalamus-pituitary axis	1	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0000777	Abnormality of the thymus	1	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0012029	Abnormal urine hormone level	1	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0000873	Diabetes insipidus	1	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0012680	Abnormality of the pineal gland	1	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0000834	Abnormality of the adrenal glands	1	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0031072	Abnormal endocrine physiology	1	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0031071	Abnormal endocrine morphology	1	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0000819	Diabetes mellitus	1	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0000820	Abnormality of the thyroid gland	1	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0000828	Abnormality of the parathyroid gland	1	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0100568	Neoplasm of the endocrine system	1	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0000847	Abnormality of renin-angiotensin system	1	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0008373	Puberty and gonadal disorders	1	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0000834	Abnormality of the adrenal glands	1	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0000777	Abnormality of the thymus	1	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0012029	Abnormal urine hormone level	1	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0012680	Abnormality of the pineal gland	1	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0000873	Diabetes insipidus	1	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0000819	Diabetes mellitus	1	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0031072	Abnormal endocrine physiology	1	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0031071	Abnormal endocrine morphology	1	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0000820	Abnormality of the thyroid gland	1	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0000828	Abnormality of the parathyroid gland	1	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0000847	Abnormality of renin-angiotensin system	1	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0100568	Neoplasm of the endocrine system	1	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0000864	Abnormality of the hypothalamus-pituitary axis	1	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0003117	Abnormal circulating hormone concentration	1	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0012093	Abnormality of endocrine pancreas physiology	1	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0003117	Abnormal circulating hormone concentration	1	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0012093	Abnormality of endocrine pancreas physiology	1	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0000864	Abnormality of the hypothalamus-pituitary axis	1	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0008373	Puberty and gonadal disorders	1	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0000777	Abnormality of the thymus	1	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0012029	Abnormal urine hormone level	1	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0000873	Diabetes insipidus	1	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0012680	Abnormality of the pineal gland	1	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0000834	Abnormality of the adrenal glands	1	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0031072	Abnormal endocrine physiology	1	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0031071	Abnormal endocrine morphology	1	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0000819	Diabetes mellitus	1	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0000820	Abnormality of the thyroid gland	1	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0000828	Abnormality of the parathyroid gland	1	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0100568	Neoplasm of the endocrine system	1	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0000847	Abnormality of renin-angiotensin system	1	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0011733	Abnormality of adrenal physiology	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0011043	Abnormality of circulating adrenocorticotropin level	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0000863	Central diabetes insipidus	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0000831	Insulin-resistant diabetes mellitus	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0010515	Aplasia/Hypoplasia of the thymus	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0009800	Maternal diabetes	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0032481	Abnormal pituitary glycoprotein hormone alpha subunit level	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0500012	Abnormality of gonadotropin-releasing hormone level	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0003492	High urinary gonadotropin level	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0100521	Neoplasm of the thymus	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0031052	Elevated vascular endothelial growth factor level	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0012030	Increased urinary cortisol level	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0031101	Abnormal circulating antimullerian hormone concentration	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0032367	Abnormal growth hormone level	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0100530	Abnormal calcium-phosphate regulating hormone level	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0012681	Abnormal pineal morphology	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0009806	Nephrogenic diabetes insipidus	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0040277	Neoplasm of the pituitary gland	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0000840	Adrenogenital syndrome	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0002929	Leydig cell insensitivity to gonadotropin	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0001953	Diabetic ketoacidosis	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0012688	Abnormality of pineal physiology	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0012099	Abnormality of circulating catecholamine level	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0010517	Ectopic thymus tissue	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0031073	Abnormal response to endocrine stimulation test	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0005978	Type II diabetes mellitus	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0030352	Abnormal serum insulin-like growth factor 1 level	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0033644	Elevated circulating erythropoietin concentration	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0032331	Increased urinary 11-deoxytetrahydrocorticosterone level	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0010516	Thymus hyperplasia	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0100733	Neoplasm of the parathyroid gland	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0031427	Abnormal circulating osteocalcin level	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0011732	Abnormality of adrenal morphology	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0040084	Abnormal circulating renin	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0500166	Abnormal circulating gastrin concentration	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0000135	Hypogonadism	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0008187	Absence of secondary sex characteristics	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0031218	Inappropriate antidiuretic hormone secretion	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0011767	Abnormality of the parathyroid physiology	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0011772	Abnormal thyroid morphology	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0100651	Type I diabetes mellitus	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0032329	Increased urinary 11-deoxycortisol level	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0003357	Thymic hormone decreased	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0100631	Neoplasm of the adrenal gland	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0011766	Abnormality of the parathyroid morphology	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0031508	Abnormal thyroid hormone level	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0040085	Abnormal circulating aldosterone	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0033799	Abnormal circulating sex hormone concentration	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0000841	Hyperactive renin-angiotensin system	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0100031	Neoplasm of the thyroid gland	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0100000	Early onset of sexual maturation	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0040192	APUdoma	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0000823	Delayed puberty	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0002926	Abnormality of thyroid physiology	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0012503	Abnormality of the pituitary gland	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0040214	Abnormal insulin level	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0004361	Abnormality of circulating leptin level	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0031083	Abnormal response to human chorionic gonadotrophin stimulation test	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0012111	Abnormality of circulating glucocorticoid level	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0004904	Maturity-onset diabetes of the young	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0032330	Increased urinary 11-deoxycorticosterone level	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0030684	Abnormal adiponectin level	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0030687	Abnormal glucagon level	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0031099	Abnormal circulating inhibin level	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0003144	Increased serum serotonin	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0006476	Abnormality of the pancreatic islet cells	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0012285	Abnormal hypothalamus physiology	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0030338	Abnormal circulating gonadotropin concentration	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0031080	Abnormal response to glucagon stimulation test	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0008197	Absence of pubertal development	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0100634	Neuroendocrine neoplasm	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0008226	Androgen insufficiency	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0008193	Primary gonadal insufficiency	2	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0009806	Nephrogenic diabetes insipidus	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0040277	Neoplasm of the pituitary gland	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0000840	Adrenogenital syndrome	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0002929	Leydig cell insensitivity to gonadotropin	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0001953	Diabetic ketoacidosis	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0012688	Abnormality of pineal physiology	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0012099	Abnormality of circulating catecholamine level	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0010517	Ectopic thymus tissue	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0031073	Abnormal response to endocrine stimulation test	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0005978	Type II diabetes mellitus	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0030352	Abnormal serum insulin-like growth factor 1 level	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0033644	Elevated circulating erythropoietin concentration	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0032331	Increased urinary 11-deoxytetrahydrocorticosterone level	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0010516	Thymus hyperplasia	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0100733	Neoplasm of the parathyroid gland	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0031427	Abnormal circulating osteocalcin level	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0011732	Abnormality of adrenal morphology	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0040084	Abnormal circulating renin	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0500166	Abnormal circulating gastrin concentration	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0000135	Hypogonadism	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0008187	Absence of secondary sex characteristics	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0100031	Neoplasm of the thyroid gland	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0031218	Inappropriate antidiuretic hormone secretion	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0011767	Abnormality of the parathyroid physiology	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0011772	Abnormal thyroid morphology	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0100651	Type I diabetes mellitus	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0032329	Increased urinary 11-deoxycortisol level	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0003357	Thymic hormone decreased	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0100631	Neoplasm of the adrenal gland	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0011766	Abnormality of the parathyroid morphology	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0031508	Abnormal thyroid hormone level	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0040085	Abnormal circulating aldosterone	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0033799	Abnormal circulating sex hormone concentration	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0000841	Hyperactive renin-angiotensin system	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0000823	Delayed puberty	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0100000	Early onset of sexual maturation	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0040192	APUdoma	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0030338	Abnormal circulating gonadotropin concentration	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0031080	Abnormal response to glucagon stimulation test	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0002926	Abnormality of thyroid physiology	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0012503	Abnormality of the pituitary gland	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0040214	Abnormal insulin level	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0004361	Abnormality of circulating leptin level	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0031083	Abnormal response to human chorionic gonadotrophin stimulation test	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0012111	Abnormality of circulating glucocorticoid level	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0004904	Maturity-onset diabetes of the young	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0032330	Increased urinary 11-deoxycorticosterone level	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0030684	Abnormal adiponectin level	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0030687	Abnormal glucagon level	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0031099	Abnormal circulating inhibin level	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0003144	Increased serum serotonin	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0006476	Abnormality of the pancreatic islet cells	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0012285	Abnormal hypothalamus physiology	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0008193	Primary gonadal insufficiency	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0008197	Absence of pubertal development	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0100634	Neuroendocrine neoplasm	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0008226	Androgen insufficiency	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0011733	Abnormality of adrenal physiology	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0011043	Abnormality of circulating adrenocorticotropin level	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0000863	Central diabetes insipidus	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0000831	Insulin-resistant diabetes mellitus	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0010515	Aplasia/Hypoplasia of the thymus	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0009800	Maternal diabetes	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0032481	Abnormal pituitary glycoprotein hormone alpha subunit level	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0500012	Abnormality of gonadotropin-releasing hormone level	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0003492	High urinary gonadotropin level	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0100521	Neoplasm of the thymus	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0031052	Elevated vascular endothelial growth factor level	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0012030	Increased urinary cortisol level	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0031101	Abnormal circulating antimullerian hormone concentration	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0032367	Abnormal growth hormone level	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0100530	Abnormal calcium-phosphate regulating hormone level	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0012681	Abnormal pineal morphology	2	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0008193	Primary gonadal insufficiency	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0010515	Aplasia/Hypoplasia of the thymus	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0009800	Maternal diabetes	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0032481	Abnormal pituitary glycoprotein hormone alpha subunit level	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0500012	Abnormality of gonadotropin-releasing hormone level	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0003492	High urinary gonadotropin level	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0100521	Neoplasm of the thymus	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0009806	Nephrogenic diabetes insipidus	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0031052	Elevated vascular endothelial growth factor level	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0012030	Increased urinary cortisol level	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0031101	Abnormal circulating antimullerian hormone concentration	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0032367	Abnormal growth hormone level	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0040277	Neoplasm of the pituitary gland	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0100530	Abnormal calcium-phosphate regulating hormone level	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0012681	Abnormal pineal morphology	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0000840	Adrenogenital syndrome	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0011733	Abnormality of adrenal physiology	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0011043	Abnormality of circulating adrenocorticotropin level	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0000863	Central diabetes insipidus	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0000831	Insulin-resistant diabetes mellitus	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0002929	Leydig cell insensitivity to gonadotropin	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0012688	Abnormality of pineal physiology	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0012099	Abnormality of circulating catecholamine level	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0010517	Ectopic thymus tissue	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0031073	Abnormal response to endocrine stimulation test	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0005978	Type II diabetes mellitus	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0030352	Abnormal serum insulin-like growth factor 1 level	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0033644	Elevated circulating erythropoietin concentration	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0032331	Increased urinary 11-deoxytetrahydrocorticosterone level	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0010516	Thymus hyperplasia	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0100733	Neoplasm of the parathyroid gland	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0031427	Abnormal circulating osteocalcin level	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0011732	Abnormality of adrenal morphology	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0040084	Abnormal circulating renin	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0008187	Absence of secondary sex characteristics	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0500166	Abnormal circulating gastrin concentration	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0001953	Diabetic ketoacidosis	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0000135	Hypogonadism	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0031218	Inappropriate antidiuretic hormone secretion	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0011767	Abnormality of the parathyroid physiology	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0011772	Abnormal thyroid morphology	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0100651	Type I diabetes mellitus	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0032329	Increased urinary 11-deoxycortisol level	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0003357	Thymic hormone decreased	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0100631	Neoplasm of the adrenal gland	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0011766	Abnormality of the parathyroid morphology	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0040192	APUdoma	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0031508	Abnormal thyroid hormone level	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0040085	Abnormal circulating aldosterone	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0033799	Abnormal circulating sex hormone concentration	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0000841	Hyperactive renin-angiotensin system	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0000823	Delayed puberty	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0100031	Neoplasm of the thyroid gland	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0100000	Early onset of sexual maturation	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0040214	Abnormal insulin level	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0004361	Abnormality of circulating leptin level	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0031083	Abnormal response to human chorionic gonadotrophin stimulation test	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0012111	Abnormality of circulating glucocorticoid level	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0004904	Maturity-onset diabetes of the young	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0032330	Increased urinary 11-deoxycorticosterone level	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0030684	Abnormal adiponectin level	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0030687	Abnormal glucagon level	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0031099	Abnormal circulating inhibin level	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0003144	Increased serum serotonin	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0008197	Absence of pubertal development	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0006476	Abnormality of the pancreatic islet cells	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0100634	Neuroendocrine neoplasm	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0008226	Androgen insufficiency	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0012285	Abnormal hypothalamus physiology	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0030338	Abnormal circulating gonadotropin concentration	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0031080	Abnormal response to glucagon stimulation test	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0002926	Abnormality of thyroid physiology	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0012503	Abnormality of the pituitary gland	2	KCTD1 CL E G H	284252	181270	Scalp ear nipple syndrome	181270	C1867020	OMIM	1	71	18249	613420
HP:0000818	HP:0008226	Androgen insufficiency	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0008193	Primary gonadal insufficiency	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0000831	Insulin-resistant diabetes mellitus	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0010515	Aplasia/Hypoplasia of the thymus	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0009800	Maternal diabetes	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0032481	Abnormal pituitary glycoprotein hormone alpha subunit level	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0500012	Abnormality of gonadotropin-releasing hormone level	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0003492	High urinary gonadotropin level	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0100521	Neoplasm of the thymus	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0009806	Nephrogenic diabetes insipidus	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0031052	Elevated vascular endothelial growth factor level	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0012030	Increased urinary cortisol level	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0031101	Abnormal circulating antimullerian hormone concentration	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0032367	Abnormal growth hormone level	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0040277	Neoplasm of the pituitary gland	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0100530	Abnormal calcium-phosphate regulating hormone level	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0012681	Abnormal pineal morphology	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0011733	Abnormality of adrenal physiology	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0011043	Abnormality of circulating adrenocorticotropin level	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0000863	Central diabetes insipidus	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0000840	Adrenogenital syndrome	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0002929	Leydig cell insensitivity to gonadotropin	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0012688	Abnormality of pineal physiology	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0012099	Abnormality of circulating catecholamine level	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0010517	Ectopic thymus tissue	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0031073	Abnormal response to endocrine stimulation test	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0005978	Type II diabetes mellitus	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0030352	Abnormal serum insulin-like growth factor 1 level	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0033644	Elevated circulating erythropoietin concentration	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0032331	Increased urinary 11-deoxytetrahydrocorticosterone level	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0010516	Thymus hyperplasia	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0100733	Neoplasm of the parathyroid gland	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0031427	Abnormal circulating osteocalcin level	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0011732	Abnormality of adrenal morphology	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0040084	Abnormal circulating renin	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0500166	Abnormal circulating gastrin concentration	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0001953	Diabetic ketoacidosis	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0000135	Hypogonadism	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0008187	Absence of secondary sex characteristics	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0031218	Inappropriate antidiuretic hormone secretion	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0011767	Abnormality of the parathyroid physiology	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0011772	Abnormal thyroid morphology	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0100651	Type I diabetes mellitus	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0032329	Increased urinary 11-deoxycortisol level	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0003357	Thymic hormone decreased	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0100631	Neoplasm of the adrenal gland	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0011766	Abnormality of the parathyroid morphology	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0040192	APUdoma	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0031508	Abnormal thyroid hormone level	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0040085	Abnormal circulating aldosterone	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0033799	Abnormal circulating sex hormone concentration	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0000841	Hyperactive renin-angiotensin system	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0100031	Neoplasm of the thyroid gland	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0100000	Early onset of sexual maturation	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0000823	Delayed puberty	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0012503	Abnormality of the pituitary gland	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0040214	Abnormal insulin level	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0004361	Abnormality of circulating leptin level	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0031083	Abnormal response to human chorionic gonadotrophin stimulation test	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0012111	Abnormality of circulating glucocorticoid level	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0004904	Maturity-onset diabetes of the young	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0032330	Increased urinary 11-deoxycorticosterone level	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0030684	Abnormal adiponectin level	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0030687	Abnormal glucagon level	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0031099	Abnormal circulating inhibin level	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0003144	Increased serum serotonin	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0008197	Absence of pubertal development	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0006476	Abnormality of the pancreatic islet cells	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0100634	Neuroendocrine neoplasm	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0012285	Abnormal hypothalamus physiology	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0030338	Abnormal circulating gonadotropin concentration	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0031080	Abnormal response to glucagon stimulation test	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0002926	Abnormality of thyroid physiology	2	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	402	9208	124015
HP:0000818	HP:0002929	Leydig cell insensitivity to gonadotropin	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0009806	Nephrogenic diabetes insipidus	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0040277	Neoplasm of the pituitary gland	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0000840	Adrenogenital syndrome	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0001953	Diabetic ketoacidosis	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0012688	Abnormality of pineal physiology	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0012099	Abnormality of circulating catecholamine level	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0010517	Ectopic thymus tissue	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0031073	Abnormal response to endocrine stimulation test	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0005978	Type II diabetes mellitus	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0030352	Abnormal serum insulin-like growth factor 1 level	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0033644	Elevated circulating erythropoietin concentration	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0032331	Increased urinary 11-deoxytetrahydrocorticosterone level	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0010516	Thymus hyperplasia	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0100733	Neoplasm of the parathyroid gland	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0031427	Abnormal circulating osteocalcin level	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0011732	Abnormality of adrenal morphology	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0040084	Abnormal circulating renin	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0500166	Abnormal circulating gastrin concentration	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0000135	Hypogonadism	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0008187	Absence of secondary sex characteristics	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0033799	Abnormal circulating sex hormone concentration	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0000841	Hyperactive renin-angiotensin system	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0100031	Neoplasm of the thyroid gland	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0031218	Inappropriate antidiuretic hormone secretion	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0011767	Abnormality of the parathyroid physiology	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0011772	Abnormal thyroid morphology	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0100651	Type I diabetes mellitus	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0032329	Increased urinary 11-deoxycortisol level	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0003357	Thymic hormone decreased	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0100631	Neoplasm of the adrenal gland	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0011766	Abnormality of the parathyroid morphology	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0031508	Abnormal thyroid hormone level	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0040085	Abnormal circulating aldosterone	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0000823	Delayed puberty	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0100000	Early onset of sexual maturation	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0040192	APUdoma	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0012285	Abnormal hypothalamus physiology	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0030338	Abnormal circulating gonadotropin concentration	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0031080	Abnormal response to glucagon stimulation test	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0002926	Abnormality of thyroid physiology	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0012503	Abnormality of the pituitary gland	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0040214	Abnormal insulin level	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0004361	Abnormality of circulating leptin level	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0031083	Abnormal response to human chorionic gonadotrophin stimulation test	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0012111	Abnormality of circulating glucocorticoid level	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0004904	Maturity-onset diabetes of the young	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0032330	Increased urinary 11-deoxycorticosterone level	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0030684	Abnormal adiponectin level	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0030687	Abnormal glucagon level	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0031099	Abnormal circulating inhibin level	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0003144	Increased serum serotonin	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0006476	Abnormality of the pancreatic islet cells	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0008226	Androgen insufficiency	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0008193	Primary gonadal insufficiency	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0008197	Absence of pubertal development	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0100634	Neuroendocrine neoplasm	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0011733	Abnormality of adrenal physiology	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0011043	Abnormality of circulating adrenocorticotropin level	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0000863	Central diabetes insipidus	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0000831	Insulin-resistant diabetes mellitus	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0010515	Aplasia/Hypoplasia of the thymus	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0009800	Maternal diabetes	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0032481	Abnormal pituitary glycoprotein hormone alpha subunit level	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0500012	Abnormality of gonadotropin-releasing hormone level	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0003492	High urinary gonadotropin level	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0100521	Neoplasm of the thymus	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0031052	Elevated vascular endothelial growth factor level	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0012030	Increased urinary cortisol level	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0031101	Abnormal circulating antimullerian hormone concentration	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0032367	Abnormal growth hormone level	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0100530	Abnormal calcium-phosphate regulating hormone level	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0012681	Abnormal pineal morphology	2	SRD5A2 CL E G H	6716	753				ORPHA	1	211	11285	607306
HP:0000818	HP:0008197	Absence of pubertal development	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0008226	Androgen insufficiency	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0008193	Primary gonadal insufficiency	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0011043	Abnormality of circulating adrenocorticotropin level	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0000863	Central diabetes insipidus	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0000831	Insulin-resistant diabetes mellitus	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0010515	Aplasia/Hypoplasia of the thymus	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0009800	Maternal diabetes	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0032481	Abnormal pituitary glycoprotein hormone alpha subunit level	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0500012	Abnormality of gonadotropin-releasing hormone level	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0003492	High urinary gonadotropin level	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0100521	Neoplasm of the thymus	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0009806	Nephrogenic diabetes insipidus	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0031052	Elevated vascular endothelial growth factor level	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0012030	Increased urinary cortisol level	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0031101	Abnormal circulating antimullerian hormone concentration	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0032367	Abnormal growth hormone level	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0040277	Neoplasm of the pituitary gland	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0100530	Abnormal calcium-phosphate regulating hormone level	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0012681	Abnormal pineal morphology	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0011733	Abnormality of adrenal physiology	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0000840	Adrenogenital syndrome	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0002929	Leydig cell insensitivity to gonadotropin	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0001953	Diabetic ketoacidosis	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0012688	Abnormality of pineal physiology	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0012099	Abnormality of circulating catecholamine level	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0010517	Ectopic thymus tissue	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0031073	Abnormal response to endocrine stimulation test	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0005978	Type II diabetes mellitus	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0030352	Abnormal serum insulin-like growth factor 1 level	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0033644	Elevated circulating erythropoietin concentration	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0032331	Increased urinary 11-deoxytetrahydrocorticosterone level	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0010516	Thymus hyperplasia	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0100733	Neoplasm of the parathyroid gland	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0031427	Abnormal circulating osteocalcin level	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0011732	Abnormality of adrenal morphology	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0040084	Abnormal circulating renin	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0500166	Abnormal circulating gastrin concentration	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0000135	Hypogonadism	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0008187	Absence of secondary sex characteristics	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0031218	Inappropriate antidiuretic hormone secretion	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0011767	Abnormality of the parathyroid physiology	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0011772	Abnormal thyroid morphology	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0100651	Type I diabetes mellitus	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0032329	Increased urinary 11-deoxycortisol level	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0003357	Thymic hormone decreased	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0100631	Neoplasm of the adrenal gland	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0011766	Abnormality of the parathyroid morphology	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0040192	APUdoma	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0031508	Abnormal thyroid hormone level	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0040085	Abnormal circulating aldosterone	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0033799	Abnormal circulating sex hormone concentration	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0000841	Hyperactive renin-angiotensin system	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0100031	Neoplasm of the thyroid gland	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0100000	Early onset of sexual maturation	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0000823	Delayed puberty	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0002926	Abnormality of thyroid physiology	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0012503	Abnormality of the pituitary gland	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0040214	Abnormal insulin level	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0004361	Abnormality of circulating leptin level	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0031083	Abnormal response to human chorionic gonadotrophin stimulation test	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0012111	Abnormality of circulating glucocorticoid level	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0004904	Maturity-onset diabetes of the young	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0032330	Increased urinary 11-deoxycorticosterone level	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0030684	Abnormal adiponectin level	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0030687	Abnormal glucagon level	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0031099	Abnormal circulating inhibin level	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0003144	Increased serum serotonin	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0006476	Abnormality of the pancreatic islet cells	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0100634	Neuroendocrine neoplasm	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0012285	Abnormal hypothalamus physiology	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0030338	Abnormal circulating gonadotropin concentration	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0031080	Abnormal response to glucagon stimulation test	2	SRD5A2 CL E G H	6716	264600	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	264600	C0268297	OMIM	1	211	11285	607306
HP:0000818	HP:0012687	Agenesis of pineal gland	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0012287	Hypothalamic luteinizing hormone-releasing hormone deficiency	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0000854	Thyroid adenoma	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0031082	Impaired growth-hormone response to glucagon stimulation test	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0012689	Abnormal pineal melatonin secretion	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0003334	Elevated circulating catecholamine level	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0031505	Abnormal circulating T4 level	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0008186	Adrenocortical cytomegaly	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0008247	Euthyroid hyperthyroxinemia	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0031074	Abnormal response to ACTH stimulation test	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0040278	Prolactinoma	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0008205	Insulin-dependent but ketosis-resistant diabetes	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0030353	Decreased serum insulin-like growth factor 1	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0100641	Neoplasm of the adrenal cortex	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0100733	Neoplasm of the parathyroid gland	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0031429	Decreased circulating osteocalcin level	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0032209	Abnormal circulating free T3 level	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0010512	Adrenal calcification	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0003351	Decreased circulating renin level	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0000821	Hypothyroidism	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0500167	Hypergastrinemia	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0032308	Increased circulating procalcitonin concentration	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0012569	Delayed menarche	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0000134	Female hypogonadism	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0011751	Abnormality of the posterior pituitary	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0100031	Neoplasm of the thyroid gland	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0000845	Elevated circulating growth hormone concentration	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0031081	Impaired cortisol response to glucagon stimulation test	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0031187	Abnormal circulating pregnenolone concentration	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0031793	Increased serum leptin	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0000843	Hyperparathyroidism	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0033079	Aplasia/Hypoplasia of the thyroid gland	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0000837	Increased circulating gonadotropin level	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0011750	Neoplasm of the anterior pituitary	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0000829	Hypoparathyroidism	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0008188	Thyroid dysgenesis	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0100631	Neoplasm of the adrenal gland	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0000853	Goiter	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0030686	Increased adiponectin level	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0030688	Increased glucagon level	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0031279	Abnormal response to gonadotropin-releasing hormone stimulation test	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0031508	Abnormal thyroid hormone level	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0008249	Thyroid hyperplasia	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0008261	Pancreatic islet cell adenoma	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0008242	Pseudohypoaldosteronism	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0006780	Parathyroid carcinoma	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0003165	Elevated circulating parathyroid hormone level	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0030347	Abnormal circulating androgen level	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0008221	Adrenal hyperplasia	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0100646	Thyroiditis	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0025453	Delayed adrenarche	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0002668	Paraganglioma	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0000826	Precocious puberty	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0030447	Merkel cell skin cancer	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0000026	Male hypogonadism	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0031084	Excessive insulin response to glucagon test	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0008229	Thyroid lymphangiectasia	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0033076	Abnormal circulating free T4 level	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0000835	Adrenal hypoplasia	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0012682	Pineal gland calcification	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0031221	Abnormal radioactive iodine uptake test result	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0003154	Increased circulating ACTH level	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0100642	Neoplasm of the adrenal medulla	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0012504	Abnormal size of pituitary gland	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0011789	Impaired sensitivity to thyroid stimulating hormone	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0000857	Neonatal insulin-dependent diabetes mellitus	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0030345	Abnormal circulating luteinizing hormone concentration	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0040215	Abnormal circulating insulin level	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0003292	Decreased serum leptin	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0000778	Hypoplasia of the thymus	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0012112	Abnormal circulating corticosterone level	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0031097	Abnormal thyroid-stimulating hormone level	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0008263	Thyroid defect in oxidation and organification of iodide	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0030339	Decreased circulating gonadotropin concentration	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0031208	Increased pituitary glycoprotein hormone alpha subunit level	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0500013	Lack of gonadotropin-releasing hormone pulsatility	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0010518	Thyroglossal cyst	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0030685	Decreased adiponectin level	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0030689	Decreased glucagon level	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0011747	Abnormality of the anterior pituitary	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0031100	Decreased inhibin B level	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0000852	Pseudohypoparathyroidism	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0006279	Beta-cell dysfunction	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0012558	Abnormal T3/T4 ratio	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0031102	Increased antimullerian hormone level	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0031075	Abnormal response to insulin tolerance test	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0002890	Thyroid carcinoma	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0003528	Elevated calcitonin	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0025388	Thyroid nodule	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0008237	Hypothalamic hypothyroidism	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0002666	Pheochromocytoma	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0012412	Premature adrenarche	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0008647	Pubertal developmental failure in females	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0000044	Hypogonadotropic hypogonadism	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0100570	Carcinoid tumor	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0011768	Parathyroid dysgenesis	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0000846	Adrenal insufficiency	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0012683	Pineal cyst	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0004510	Pancreatic islet-cell hyperplasia	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0002920	Decreased circulating ACTH level	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0002930	Impaired sensitivity to thyroid hormone	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0000877	Insulin-resistant diabetes mellitus at puberty	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0008208	Parathyroid hyperplasia	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0005359	Aplasia of the thymus	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0000849	Adrenocortical abnormality	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0033080	Abnormal TSH response to thyrotrophin-releasing hormone stimulation test	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0006274	Reduced pancreatic beta cells	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0031212	Abnormal circulating progesterone level	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0025482	Positive perchlorate discharge test	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0032482	Decreased pituitary glycoprotein hormone alpha subunit level	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0100522	Thymoma	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0011742	Ectopic adrenal gland	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0002717	Adrenal overactivity	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0000836	Hyperthyroidism	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0031077	Abnormal response to corticotropin releasing hormone stimulation test	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0030269	Increased serum insulin-like growth factor 1	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0025132	Abnormal circulating estrogen level	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0031103	Decreased antimullerian hormone level	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0000824	Decreased response to growth hormone stimulation test	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0011731	Abnormality of circulating cortisol level	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0002897	Parathyroid adenoma	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0031817	Decreased circulating parathyroid hormone level	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0031428	Increased circulating osteocalcin level	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0008216	Adrenal gland dysgenesis	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0000848	Increased circulating renin level	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0012684	Abnormal pineal volume	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0030405	Pancreatic endocrine tumor	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0025515	Delayed thelarche	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0000815	Hypergonadotropic hypogonadism	3	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000818	HP:0012569	Delayed menarche	3	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0000134	Female hypogonadism	3	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0000821	Hypothyroidism	3	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0030347	Abnormal circulating androgen level	3	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0008221	Adrenal hyperplasia	3	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0000818	HP:0100646	Thyroiditis	3	DMPK CL E G